Endocrine Abstracts

A well-term baby born to consanguineous healthy Yemenese parents was observed in the hospital as parents had lost previous three babies (both male and female) within 10 days of age (in Yemen). These babies who were initially well were reported to have developed a rash and then collapsed and died. Post-mortems were not done. This baby who appeared well at birth, also developed a facial rash on day seven and was found to have hyponatremia and severe hyperkalemia, albeit a normal...

Introduction: The presence of thyroid peroxidase (TPO) antibodies in euthyroid children poses a potential risk for the development of autoimmune hypothyroidism. Little is known about the ontogeny of this process. This retrospective study aims to estimate the risk of developing hypothyroidism in euthyroid children with raised TPO antibodies and provide a guideline for follow up.Methods: Children 0–16 years with raised TPO antibodies (1996–2005) ...

Introduction: The biological activity of thyroid hormone (TH) is largely mediated by binding of T3 to nuclear T3 receptors (TRs). Before TH can mediate its effects, it needs to be transported across the plasma membrane. Several TH transporters, such as MCT8, facilitate this transport. Inactivating mutations in MCT8 lead to a severe phenotype of psychomotor retardation. In addition to transport into the cell, MCT8 is also able to transport TH out of the ce...

The importance of thyroid hormone (TH) transporters for brain development has been unequivocally demonstrated by the identification of mutations in the transporter MCT8. Patients have mental retardation, hypotonia and low body weight (BW). Their biochemical phenotype typically shows high serum T3, low serum T4 and normal TSH levels. Recently, it has been shown that MCT8 is prerequisite for normal TH release from the thyroid. To date, no curative therapy i...

Introduction: Stimulated serum C-peptide (sCP) during a mixed meal tolerance test (MMTT) is the gold standard measure of endogenous insulin secretion in Type 1 diabetes (T1D). However invasiveness of sampling, the need to discontinue insulin prior to testing and rapid processing of samples limits its widespread use, particularly in children. Practical alternatives would increase utility.Aims: To assess if in a MMTT: 1.It is necessary to omit insulin. 2. ...

Adrenal-derived glucocorticoids originate from their precursor cholesterol. Scavenger receptor BI (SR-BI) is a major high-density lipoprotein (HDL) receptor that mediates the selective uptake of cholesteryl esters (CE) from this lipoprotein in the circulation. In our present studies in SR-BI knockout (KO) mice and human carriers of a functional mutation in the extracellular domain of SR-BI (P297S), we determined whether SR-BI-mediated uptake of HDL-CE is required for adrenal g...

Introduction: Medullary and papillary thyroid carcinoma (MTC and PTC) are two types of thyroid cancer that can originate from activating mutations or rearrangements in the RET gene. Therapeutic options are limited in recurrent disease but since RET is a tyrosine kinase (TK) receptor involved in cellular growth and proliferation, treatment with a TK-inhibitor might be promising. Several TK-inhibitors have been tested in clinical trials, but it is unknown which inhibitor is most...

Members of the secreted WNT glycoprotein family are important in embryogenesis and adult tissue homeostasis, and defects in the signal transduction of several WNT ligands including WNT4 have been linked to a variety of clinical conditions. Deletion of Wnt4 gene in mice leads to improper development of many organs including the adrenals in which the zona glomerulosa forms imperfectly. The objective of this study was to investigate the expression of WNT4 in human adult and fetal...

Background: Cushing’s disease is caused by an adrenocorticotropic hormone (ACTH)-secreting pituitary adenoma, resulting in glucocorticoid excess. First-choice treatment is transsphenoidal pituitary surgery, using either a microscopic or endoscopic technique. Convincing evidence supporting the choice for one of both techniques, either based on treatment results or complication rate, is lacking.Objective: We aimed to compare endoscopic and microscopic...

Obesity is one of the leading causes of preventable death in the Western world, and its prevalence is dramatically increasing. Although obesity is primarily a metabolic disease, immunological aberrations also significantly contribute to obesity-related morbidity. The well-established state of chronic low-grade inflammation is considered to be crucial in the development of complications such as diabetes and atherosclerosis. Moreover, obesity is associated with increased suscept...